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- source_evidence_literature type ECO_0000212 NP509538.RAJiju141g_2k7dSqw8PMePqzN19D9grX0BEBZ1nL5yfg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP509538.RAJiju141g_2k7dSqw8PMePqzN19D9grX0BEBZ1nL5yfg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP509538.RAJiju141g_2k7dSqw8PMePqzN19D9grX0BEBZ1nL5yfg130_provenance.
- NP509538.RAJiju141g_2k7dSqw8PMePqzN19D9grX0BEBZ1nL5yfg130_assertion description "[The coding sequence and flanking intron/exon junctions of IMPDH1 were analyzed in 203 patients with autosomal dominant RP (adRP), 55 patients with autosomal recessive RP (arRP), 7 patients with isolated RP, 17 patients with macular degeneration (MD), and 24 patients with Leber congenital amaurosis (LCA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP509538.RAJiju141g_2k7dSqw8PMePqzN19D9grX0BEBZ1nL5yfg130_provenance.
- NP509538.RAJiju141g_2k7dSqw8PMePqzN19D9grX0BEBZ1nL5yfg130_assertion evidence source_evidence_literature NP509538.RAJiju141g_2k7dSqw8PMePqzN19D9grX0BEBZ1nL5yfg130_provenance.
- NP509538.RAJiju141g_2k7dSqw8PMePqzN19D9grX0BEBZ1nL5yfg130_assertion SIO_000772 16384941 NP509538.RAJiju141g_2k7dSqw8PMePqzN19D9grX0BEBZ1nL5yfg130_provenance.
- NP509538.RAJiju141g_2k7dSqw8PMePqzN19D9grX0BEBZ1nL5yfg130_assertion wasDerivedFrom befree-20150227 NP509538.RAJiju141g_2k7dSqw8PMePqzN19D9grX0BEBZ1nL5yfg130_provenance.
- NP509538.RAJiju141g_2k7dSqw8PMePqzN19D9grX0BEBZ1nL5yfg130_assertion wasGeneratedBy ECO_0000203 NP509538.RAJiju141g_2k7dSqw8PMePqzN19D9grX0BEBZ1nL5yfg130_provenance.
- befree-20150227 importedOn "2015-02-27" NP509538.RAJiju141g_2k7dSqw8PMePqzN19D9grX0BEBZ1nL5yfg130_provenance.